ZC4H2, zinc finger C4H2-type containing, 55906

N. diseases: 151; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 Biomarker disease BEFREE ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. 28345801 2017
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GeneticVariation disease UNIPROT ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388 2013
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GermlineCausalMutation disease ORPHANET ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388 2013
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GeneticVariation disease UNIPROT ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388 2013
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 Biomarker disease CTD_human
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GeneticVariation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease CTD_human ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C1839735
Disease: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 		0.300 Biomarker disease CTD_human ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
CUI: C1844934
Disease: Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis multiplex congenita, distal, X-linked 		0.300 Biomarker disease CTD_human ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 Biomarker disease BEFREE We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo-/akinesia and/or (neurogenic) AMC. 31206972 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE Mutations in X-linked zinc-finger gene ZC4H2 were recently identified in some families and individuals with variable forms of AMC associated with dysmorphic signs, intellectual disability and spastic paresis. 29254829 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review. 29803542 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE We identified disease-causing mutations in the zinc-finger gene ZC4H2 in four families affected by X-linked AMC plus ID and one family affected by cerebral palsy. 23623388 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 GeneticVariation phenotype BEFREE ZC4H2 encodes a C4H2 type zinc-finger nuclear factor, the mutation of which has been associated with disorders with various clinical phenotypes in human, including developmental delay, intellectual disability and dystonia. 31336385 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE ZC4H2 encodes a C4H2 type zinc-finger nuclear factor, the mutation of which has been associated with disorders with various clinical phenotypes in human, including developmental delay, intellectual disability and dystonia. 31336385 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease BEFREE Outcomes included health-related quality of life as measured by the short-form 12-item interview (SF-12) physical and mental component summary (PCS and MCS) scores, depression, post-traumatic stress disorder (PTSD), eating disorders, fibromyalgia, other chronic pain, cardiovascular disease risk factors, and cancer. 31755818 2020